Familial haplotyping and embryo analysis for Preimplantation Genetic Diagnosis (PGD) using DNA microarrays: A proof of principle study

Journal of Assisted Reproduction and Genetics

Volumn 30, Issue 12, 2013, Pages 1595-1603

  Altarescu, G ^a   Zeevi, D A ^a   Zeligson, S ^a   Perlberg, S ^a   Eldar Geva, T ^a   Margalioth, E J ^a   Levy Lahad, E ^a   Renbaum, P ^a  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

Author keywords

Haplotyping; Preimplantation genetic diagnosis; Single cell; SNP microarray; Whole genome amplification

Indexed keywords

GENOMIC DNA; PERIPHERAL MYELIN PROTEIN 22;

ALGORITHM; ALLELE; ARTICLE; BIOPSY; BLASTOMA; BLASTOMERE BIOPSY; CHROMOSOME 17P; COPY NUMBER VARIATION; DNA MICROARRAY; EMBRYO; EMBRYO CULTURE; EMBRYO TRANSFER; FEASIBILITY STUDY; FEMALE; GENE AMPLIFICATION; GENETIC ANALYSIS; GENOTYPE; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HIGH THROUGHPUT SCREENING; HOMOZYGOTE; HUMAN; HUMAN TISSUE; LEG MUSCLE; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PREIMPLANTATION GENETIC DIAGNOSIS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; WEAKNESS;

ALLELES; BIOPSY; CHARCOT-MARIE-TOOTH DISEASE; EMBRYO TRANSFER; FEMALE; GENE AMPLIFICATION; GENETIC DISEASES, INBORN; HAPLOTYPES; HUMANS; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; PREIMPLANTATION DIAGNOSIS;

EID: 84890562882     PISSN: 10580468     EISSN: 15737330     Source Type: Journal    
DOI: 10.1007/s10815-013-0044-8     Document Type: Article

References (20)

1. Altarescu G, Brooks B, Kaplan Y, Eldar-Geva T, Margalioth EJ, Levy-Lahad E, et al. Single-sperm analysis for haplotype construction of de-novo paternal mutations: application to PGD for neurofibromatosis type 1. Hum Reprod. 2006;21(8):2047-51. doi: 10.1093/humrep/del064.
2. Altarescu G, Eldar Geva T, Brooks B, Margalioth E, Levy-Lahad E, Renbaum P. PGD on a recombinant allele: crossover between the TSC2 gene and 'linked' markers impairs accurate diagnosis. Prenat Diagn. 2008;28(10):929-33. doi: 10.1002/pd.2070.
3. Chowdhury R, Bois PR, Feingold E, Sherman SL, Cheung VG. Genetic analysis of variation in human meiotic recombination. PLoS Genet. 2009;5(9):e1000648. doi: 10.1371/journal.pgen.1000648.
4. Fragouli E, Wells D. Aneuploidy screening for embryo selection. Sem Reprod Med. 2012;30(4):289-301. doi: 10.1055/s-0032-1313908.
5. Handyside AH, Harton GL, Mariani B, Thornhill AR, Affara N, Shaw MA, et al. Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J Med Genet. 2010;47(10):651-8. doi: 10.1136/jmg.2009.069971.
6. Handyside AH, Kontogianni EH, Hardy K, Winston RM. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990;344(6268):768-70. doi: 10.1038/344768a0.
7. Iwamoto K, Bundo M, Ueda J, Nakano Y, Ukai W, Hashimoto E, et al. Detection of chromosomal structural alterations in single cells by SNP arrays: a systematic survey of amplification bias and optimized workflow. PLoS One. 2007;2(12):e1306. doi: 10.1371/journal.pone.0001306.
8. Jin R, Tong X, Wu L, Luo L, Luan H, Zhou G, et al. Extended culture of vitrified-warmed embryos in day-3 embryo transfer cycles: a randomized controlled pilot study. Reprod Biomed Online. 2013;26(4):384-92. doi: 10.1016/j.rbmo.2012.12.003.
9. Johnson DS, Gemelos G, Baner J, Ryan A, Cinnioglu C, Banjevic M, et al. Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol. Hum Reprod. 2010;25(4):1066-75. doi: 10.1093/humrep/dep452.
10. Kakourou G, Dhanjal S, Daphnis D, Doshi A, Nuttall S, Gotts S, et al. Preimplantation genetic diagnosis for myotonic dystrophy type 1: detection of crossover between the gene and the linked marker APOC2. Prenat Diagn. 2007;27(2):111-6. doi: 10.1002/pd.1611.
11. Konings P, Vanneste E, Jackmaert S, Ampe M, Verbeke G, Moreau Y, et al. Microarray analysis of copy number variation in single cells. Nat Protoc. 2012;7(2):281-310. doi: 10.1038/nprot.2011.426.
12. Renwick PJ, Trussler J, Ostad-Saffari E, Fassihi H, Black C, Braude P, et al. Proof of principle and first cases using preimplantation genetic haplotyping-a paradigm shift for embryo diagnosis. Reprod Biomed Online. 2006;13(1):110-9.
13. Spits C, Le Caignec C, De Rycke M, Van Haute L, Van Steirteghem A, Liebaers I, et al. Optimization and evaluation of single-cell whole-genome multiple displacement amplification. Hum Mutat. 2006;27(5):496-503. doi: 10.1002/humu.20324.
14. Treff NR, Su J, Tao X, Northrop LE, Scott Jr RT. Single-cell whole-genome amplification technique impacts the accuracy of SNP microarray-based genotyping and copy number analyses. Mol Hum Reprod. 2011;17(6):335-43. doi: 10.1093/molehr/gaq103.
15. Vanneste E, Bittman L, Van der Aa N, Voet T, Vermeesch JR. New array approaches to explore single cells genomes. Front Genet. 2012;3:44. doi: 10.3389/fgene.2012.00044.
16. Verlinsky O, Kuliev A. Atlas of preimplantation genetic diagnosis. 2nd ed. London: Taylor & Francis; 2004.
17. Verlinsky Y, Cohen J, Munne S, Gianaroli L, Simpson JL, Ferraretti AP, et al. Over a decade of experience with preimplantation genetic diagnosis. Fertil Steril. 2004;82(2):302-3. doi: 10.1016/j.fertnstert.2004.02.108.
18. Voet T, Vanneste E, Van der Aa N, Melotte C, Jackmaert S, Vandendael T, et al. Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryos. Hum Mutat. 2011;32(7):783-93. doi: 10.1002/humu.21502.
19. Wilton L, Thornhill A, Traeger-Synodinos J, Sermon KD, Harper JC. The causes of misdiagnosis and adverse outcomes in PGD. Hum Reprod. 2009;24(5):1221-8. doi: 10.1093/humrep/den488.
20. Zhu D, Zhang J, Cao S, Zhang J, Heng BC, Huang M, et al. Vitrified-warmed blastocyst transfer cycles yield higher pregnancy and implantation rates compared with fresh blastocyst transfer cycles-time for a new embryo transfer strategy? Fertil Steril. 2011;95(5):1691-5. doi: 10.1016/j.fertnstert.2011.01. 022.